New studies in rats suggest the drug reserpine, approved in 1955 for high blood pressure, might treat the blinding disease retinitis pigmentosa. No therapy exists for this rare inherited disease, ...

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the National Cancer Institute-funded Clinical Proteomic Tumor Analysis Consortium (CPTAC) ...

Most cancer genome studies have focused on mutations in the tumor itself and how such gene variants allow a tumor to grow unchecked.

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Researchers from the Department of Pathology, School of Clinical Medicine at the LKS Faculty of Medicine of the University of ...

Most cancer genome studies have focused on mutations in the tumor itself and how such gene variants allow a tumor to grow unchecked. A new study takes a deep dive into inherited cancer mutations ...

A new multicenter study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with the Clinical ...

A major new study has revealed that the genes we inherit at birth play a much larger role in cancer than previously ...

Researchers have uncovered a surprising mechanism by which a single genetic mutation in the BCL11B gene causes both immune dysfunction and brain development issues.

Researchers have identified mutations in the non-coding gene RNU2-2 as a cause of a newly defined neurodevelopmental disorder ...